The Mutual Benefits of Rare Disease Research and Precision Medicine

Precision medicine seems tailored to the study of rare diseases: at least 80 percent of them arise from genetic variations, and (though not always the case) show varying degrees of heterogeneity from patient to patient. They also represent a moderately untapped source of genomic ‘big data’, due to most being studied by only a handful of specialists worldwide. Now, many scientific establishments are recognizing the value of combining rare disease research data — not only for their collective potential to alleviate individual patient suffering, but as lenses to examine
the more common diseases of man.